Human genes for Donnai-Barrow syndrome
Donnai-Barrow syndrome [DOID:0090144]
A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.
Synonyms: Donnai-Barrow syndrome, DOID:0090144, DonnaiBarrow syndrome, Donnai-Barrow disease, Donnai-Barrow disorder ...